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ONTOLOGY REPORT - ANNOTATIONS


Term:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
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Accession:DOID:9001671 term browser browse the term
Definition:An autosomal recessive muscular dystrophy with onset in childhood. Common features include calf hypertrophy, increased serum creatine kinase, and muscle biopsy often shows dystrophic features.
Synonyms:exact_synonym: LGMDR24;   MDDGC8;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 24;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED;   limb-girdle muscular dystrophy-dystroglycanopathy (type C8)
 primary_id: OMIM:618135
For additional species annotation, visit the Alliance of Genome Resources.


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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          atrophic muscular disease 280
            muscular dystrophy 278
              limb-girdle muscular dystrophy 122
                MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      limb-girdle muscular dystrophy 122
                        MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.